ClinVar Miner

List of variants reported as likely pathogenic for diazoxide-resistant focal hyperinsulinism by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000352.5(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206
NM_000352.5(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.5(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.5(ABCC8):c.2921-9G>A rs757171524
NM_000352.5(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.5(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.5(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.5(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.3(KCNJ11):c.868G>A (p.Val290Met) rs750414160

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